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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
BAP1
- Monosomy
- Uveal Melanoma
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
GNAQ
- Prader–willi Syndrome
- Monosomy
- Uveal Melanoma
SS18
- Synovial Sarcoma
GNA11
- Monosomy
- Uveal Melanoma
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
HDAC4
- Uveal Melanoma
- 2q37 Monosomy
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
- Uveal Melanoma
SF3B1
- Monosomy
- Uveal Melanoma
TRIP12
- Mental Retardation, Autosomal Dominant 49